My husband and I are Jewish. Why are there differing opinions on when to test for Tay-Sachs disease carrier status (before vs. after conception)? If my husband and I were both carriers of Tay-Sachs, what is the probability that the baby would have the disease?
This is a tough question. The problem is, if a couple knows that they are both carriers, they worry tremendously.
The other issue is, will a couple have an abortion if they find out the baby has the disease? That is why there are differing opinions on checking for carrier status.
One option in diagnosing this disease early in pregnancy is by CVS, or chorionic villus sampling. The baby would have approximately a 25 percent chance of having the disease if you are both carriers. It is a small likelihood that a couple are both carriers. However, the chance is certainly present.
Another option would be to consult with a genetic expert. Most university settings have this type of expert and it may benefit you to visit them preconception.
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